rs753268823

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs753268823(C;T)

Make rs753268823(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

183222115

Gene

LAMC2

is a	snp
is	mentioned by
dbSNP	rs753268823
dbSNP (classic)	rs753268823
ClinGen	rs753268823
ebi	rs753268823
HLI	rs753268823
Exac	rs753268823
Gnomad	rs753268823
Varsome	rs753268823
LitVar	rs753268823
Map	rs753268823
PheGenI	rs753268823
Biobank	rs753268823
1000 genomes	rs753268823
hgdp	rs753268823
ensembl	rs753268823
geneview	rs753268823
scholar	rs753268823
google	rs753268823
pharmgkb	rs753268823
gwascentral	rs753268823
openSNP	rs753268823
23andMe	rs753268823
SNPshot	rs753268823
SNPdbe	rs753268823
MSV3d	rs753268823
GWAS Ctlg	rs753268823

Max Magnitude

0

ClinVar
Risk	rs753268823(T;T)
Alt	rs753268823(T;T)
Reference	Rs753268823(C;C)
Significance	Probable-Pathogenic
Disease	Junctional epidermolysis bullosa gravis of Herlitz
Variation	info
Gene	LAMC2
CLNDBN	Junctional epidermolysis bullosa gravis of Herlitz
Reversed	0
HGVS	NC_000001.10:g.183191250C>T
CLNSRC
CLNACC	RCV000169121.1,